Variant report

Variant	nsv1018075
Chromosome Location	chr6:65185962-65234866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:65213276..65216079-chr6:65219368..65221151,2	K562	blood:
2	chr6:65190711..65192538-chr6:65195530..65197362,2	K562	blood:
3	chr6:65213231..65215666-chr6:65222700..65224711,2	K562	blood:
4	chr6:65213231..65215666-chr6:65222700..65224711,2	K562	blood:
5	chr3:192405286..192405824-chr6:65200917..65201417,2	HCT-116	colon:
6	chr6:65213276..65216079-chr6:65219368..65221151,2	K562	blood:
7	chr6:65219986..65221958-chr6:65240490..65242186,2	K562	blood:
8	chr6:65190711..65192538-chr6:65195530..65197362,2	K562	blood:
9	chr10:107790162..107791057-chr6:65201703..65202502,2	MCF-7	breast:

No data

Extended variants
information (count: 1137 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1137 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3846796	chr6:65186006-65186007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562174266	chr6:65186145-65186146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147002065	chr6:65186157-65186158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541780913	chr6:65186174-65186175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189241403	chr6:65186244-65186245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530626683	chr6:65186299-65186300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116341884	chr6:65186314-65186315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547624741	chr6:65186316-65186317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374316622	chr6:65186335-65186336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59130430	chr6:65186352-65186353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546606580	chr6:65186373-65186374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567939150	chr6:65186418-65186419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535397893	chr6:65186427-65186428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554752983	chr6:65186428-65186429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57162120	chr6:65186441-65186442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs570318822	chr6:65186468-65186469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116650019	chr6:65186469-65186470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192205152	chr6:65186602-65186603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147644943	chr6:65186643-65186644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577448532	chr6:65186686-65186687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534785675	chr6:65186770-65186771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9351272	chr6:65186776-65186777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9345146	chr6:65186828-65186829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558427207	chr6:65186908-65186909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542166137	chr6:65186976-65186977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563243120	chr6:65187010-65187011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142125307	chr6:65187035-65187036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545631550	chr6:65187045-65187046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9342288	chr6:65187046-65187047	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528215570	chr6:65187078-65187079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546395595	chr6:65187083-65187084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs16895250	chr6:65187148-65187149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs368111734	chr6:65187211-65187212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115444786	chr6:65187237-65187238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150140979	chr6:65187247-65187248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537725923	chr6:65187249-65187250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552832124	chr6:65187255-65187256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs59742995	chr6:65187301-65187302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs207467057	chr6:65187334-65187335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570978767	chr6:65187347-65187348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184413043	chr6:65187354-65187355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552006411	chr6:65187397-65187398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138449016	chr6:65187416-65187417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35535191	chr6:65187442-65187443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71551589	chr6:65187444-65187445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34711677	chr6:65187445-65187446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188729540	chr6:65187464-65187465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73455416	chr6:65187518-65187519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149281971	chr6:65187529-65187530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111773114	chr6:65187557-65187558	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65185800-65187800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:65186000-65186200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:65186200-65187200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:65186600-65188000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:65187000-65188000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:65187200-65188000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:65191600-65194400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr6:65192400-65193400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:65192600-65193000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:65192800-65193400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:65192800-65193600	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:65192800-65194400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr6:65193400-65194400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:65194000-65194400	Enhancers	NHEK	skin
15	chr6:65197600-65197800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:65197800-65199600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:65198200-65199200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:65198200-65199400	Enhancers	Brain Germinal Matrix	brain
19	chr6:65198800-65199200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:65198800-65200200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:65199200-65199600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:65199400-65199800	Weak transcription	Brain Germinal Matrix	brain
23	chr6:65199600-65200000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:65199600-65200200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:65199800-65200400	Enhancers	Brain Germinal Matrix	brain
26	chr6:65207000-65207600	Enhancers	Fetal Lung	lung
27	chr6:65207000-65208400	Enhancers	HUVEC	blood vessel
28	chr6:65207600-65213000	Weak transcription	Fetal Lung	lung
29	chr6:65208400-65212600	Weak transcription	HUVEC	blood vessel
30	chr6:65211600-65212000	Active TSS	Fetal Brain Male	brain
31	chr6:65211800-65212000	Enhancers	Fetal Heart	heart
32	chr6:65211800-65212200	Active TSS	A549	lung
33	chr6:65212000-65212800	Weak transcription	Fetal Heart	heart
34	chr6:65212600-65213800	Enhancers	Primary hematopoietic stem cells	blood
35	chr6:65212600-65215200	Enhancers	HUVEC	blood vessel
36	chr6:65212800-65213200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:65212800-65213200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:65212800-65213600	Enhancers	Fetal Heart	heart
39	chr6:65212800-65216600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:65213000-65216000	Enhancers	Fetal Lung	lung
41	chr6:65214400-65214800	Enhancers	Fetal Stomach	stomach
42	chr6:65214400-65215400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:65214800-65217600	Weak transcription	Fetal Stomach	stomach
44	chr6:65215200-65215600	Enhancers	Primary B cells from cord blood	blood
45	chr6:65215200-65215800	Enhancers	Gastric	stomach
46	chr6:65215800-65216400	Weak transcription	Gastric	stomach
47	chr6:65216000-65217600	Weak transcription	Fetal Lung	lung
48	chr6:65216400-65216600	Enhancers	Gastric	stomach
49	chr6:65216600-65221200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:65217600-65218000	Enhancers	Fetal Stomach	stomach

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